Mutation Details for c.853A>T

cDNA Name c.853A>T 
Protein Name p.Ile285Phe 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name I285F 
Other Details  
Contributors Iris Schrijver, Sudha Ramalingam,Ramalingam Sankaran,Steve Swanson,Charles Dunlop,Steven Keiles,Richard Moss,John Oehlert,Phyllis Gardner,E.Robert Wassman,Anja Kammesheidt   2006-03-16
Institute Stanford School of Medicine, Stanford Ambry Genetics Corporation, Irvine  
Submitted Phenotype Details Patient is a one year old male of Hispanic-African American descent presenting with chronic respiratory problems. The second mutation was not identified. He also carries a polymorphism 1497G>A within exon 9.  
Reference  

To check if there are any papers published about this mutation/variant on PubMed, please click here.




Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011